Hypothesis

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www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov

A molecular analysis of the GAA gene and clinical spectrum in 38 patients with Pompe disease in Japan

1
1. ClingenBaseline 22 Oct 2026
  
  in Baseline Annotations
  
  7
  
  Patient7: Female, 1 year onset
  
  CasePresentingHPOs: HP:0002240 (Hepatomegaly)
  
  HPOsFreeText: GAA activity 1% from leukocyte
  
  CaseNotHPOs: HP:0002098, HP:0001324, HP:0001640 (Respiratory distress, Muscle weakness, Cardiomegaly)
  
  NotHPOsFreeText: No wheelchair needed, Respiratory Assistance not needed
  
  CaseAddInfo: LOPD
  
  Individual CaseInfo ClinVarID:189082 CA401370640 inferred_gene_hgnc:4065 inferred_gene_source:CAID GAA variant
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Tags

CA401370640

ClinVarID:189082

CaseInfo

inferred_gene_source:CAID

inferred_gene_hgnc:4065

Individual

GAA variant

Annotators

ClingenBaseline

URL

ncbi.nlm.nih.gov/pmc/articles/PMC5671405/